Chromosome 7

Chromosome 7 is one of the 23 pairs of chromosomes in humans, who normally have two copies of this chromosome. Chromosome 7 spans about 160 million base pairs (the building material of DNA) and represents between 5 and 5.5 percent of the total DNA in cells.
Genes
Number of genes
The following are some of the gene count estimates of human chromosome 7. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.
Gene list
The following is a partial list of genes on human chromosome 7. For complete list, see the link in the infobox on the right.
Diseases and disorders
The following diseases are some of those related to genes on chromosome 7:
7p22.1 microduplication syndrome
argininosuccinic aciduria
cerebral cavernous malformation
Charcot–Marie–Tooth disease
Cholestasis, progressive familial intrahepatic 3
Citrullinemia, type II, adult-onset,
congenital bilateral absence of vas deferens
cystic fibrosis<ref name="Hillier 2003"></bn></ref>
Developmental verbal dyspraxia
distal spinal muscular atrophy, type V
Ehlers–Danlos syndrome
hemochromatosis, type 3
Hereditary nonpolyposis colorectal cancer HNPCC4
Lissencephaly syndrome, norman-roberts type
Marfan syndrome
maple syrup urine disease
maturity onset diabetes of the young type 3
mucopolysaccharidosis type VII or Sly syndrome
Muscular dystrophy, limb-girdle, type 1D
myelodysplastic syndrome
Myotonia congenita
nonsyndromic deafness
osteogenesis imperfecta
p47-phox-deficient chronic granulomatous disease
Pectus excavatum
Pendred syndrome
Romano–Ward syndrome
Shwachman–Diamond syndrome
Schizophrenia
Silver-Russell syndrome
Specific language impairment
Tritanopia or tritanomaly color blindness
Williams syndrome
Zellweger syndrome
Chromosomal disorders
The following conditions are caused by changes in the structure or number of copies of chromosome 7:
Williams syndrome is caused by the deletion of genetic material from a portion of the long (q) arm of chromosome 7. The deleted region, which is located at position 11.23 (written as 7q11.23), is designated as the Williams syndrome critical region. This region includes more than 20 genes, and researchers believe that the characteristic features of Williams syndrome are probably related to the loss of multiple genes in this region.
While a few of the specific genes related to Williams syndrome have been identified, the relationship between most of the genes in the deleted region and the signs and symptoms of Williams syndrome is unknown.
Other changes in the number or structure of chromosome 7 can cause delayed growth and development, mental disorder, characteristic facial features, skeletal abnormalities, delayed speech, and other medical problems. These changes include an extra copy of part of chromosome 7 in each cell (partial trisomy 7) or a missing segment of the chromosome in each cell (partial monosomy 7). In some cases, several DNA building blocks (nucleotides) are deleted or duplicated in part of chromosome 7. A circular structure called ring chromosome 7 is also possible. A ring chromosome occurs when both ends of a broken chromosome are reunited.
Cytogenetic band
In popular culture
Novels
In the novel Performance Anomalies, researchers at Stanford University identify mutations in the long (q) arm of chromosome 7 as underlying the accelerated nervous system of the spy protagonist Cono, who receives the moniker Cono 7Q
References
Further reading
External links
Chromosomes (human)